Mutagenetix > Incidental Mutation

Incidental Mutation 'R9603:Mtus1'

723793

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

B430305I03Rik, MD44, MTSG1, Atip1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R9603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40990914-41133726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41083758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 307 (V307E)

Ref Sequence

ENSEMBL: ENSMUSP00000112626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059115] [ENSMUST00000118835] [ENSMUST00000145860] [ENSMUST00000155055]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059115
AA Change: V307E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: V307E

Domain	Start	End	E-Value	Type
low complexity region	524	539	N/A	INTRINSIC
coiled coil region	876	938	N/A	INTRINSIC
SCOP:d1eq1a_	1021	1156	3e-7	SMART
low complexity region	1195	1209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118835
AA Change: V307E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: V307E

Domain	Start	End	E-Value	Type
low complexity region	524	539	N/A	INTRINSIC
coiled coil region	876	938	N/A	INTRINSIC
SCOP:d1eq1a_	1021	1156	3e-7	SMART
low complexity region	1195	1209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143853

Predicted Effect

probably benign
Transcript: ENSMUST00000145860
AA Change: V307E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: V307E

Domain	Start	End	E-Value	Type
low complexity region	524	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155055

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit spontaneous heart hypertrophy and SLE-like lymphoproliferative disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,228,914	V359A	probably damaging	Het
Acsl6	A	T	11: 54,335,085	N317I	probably damaging	Het
Adam18	T	A	8: 24,628,131	S590C	possibly damaging	Het
Btrc	G	A	19: 45,471,087	E103K	probably benign	Het
Cars	A	G	7: 143,559,192	M766T	possibly damaging	Het
Cavin4	T	C	4: 48,671,999	V148A	probably benign	Het
Cdkn2d	T	C	9: 21,290,843	D36G	possibly damaging	Het
Cubn	A	T	2: 13,287,699	D3224E	probably damaging	Het
Ebf1	A	G	11: 44,618,179	M1V	probably null	Het
Fcgbp	A	G	7: 28,103,138	D1497G	probably damaging	Het
Foxs1	A	C	2: 152,932,361	C257W	probably damaging	Het
Fstl5	C	T	3: 76,588,953	P341L	probably damaging	Het
Fzd10	G	A	5: 128,601,707	G164S	probably benign	Het
Gm13103	T	C	4: 143,851,697	S176P		Het
Gm5662	T	G	12: 88,271,957	N11T	unknown	Het
Hrh3	C	A	2: 180,100,651	E395*	probably null	Het
Hsf4	G	A	8: 105,272,803	V318M	probably damaging	Het
Il21	T	C	3: 37,227,800	E65G	possibly damaging	Het
Kank1	A	G	19: 25,430,925	D1256G	possibly damaging	Het
Klhl22	A	G	16: 17,777,051	N348S	possibly damaging	Het
Krr1	T	C	10: 111,976,767	I94T	probably damaging	Het
Lpin2	A	G	17: 71,243,415	D724G	probably damaging	Het
Mn1	C	A	5: 111,418,527	P121Q	probably damaging	Het
Mphosph9	A	T	5: 124,324,952	L10*	probably null	Het
Muc20	A	G	16: 32,794,785	L74P	probably damaging	Het
Nnat	A	G	2: 157,561,781	*113W	probably null	Het
Olfr1306	A	G	2: 111,912,783	V49A	possibly damaging	Het
Olfr38	C	T	6: 42,762,738	Q229*	probably null	Het
Olfr539	G	T	7: 140,667,881	C191F	probably damaging	Het
Olfr711	A	T	7: 106,971,896	Y149*	probably null	Het
Pkm	T	A	9: 59,670,548	V216E	probably damaging	Het
Pla2g12a	G	A	3: 129,881,251	V19I	unknown	Het
Rai14	G	A	15: 10,595,030	Q136*	probably null	Het
Rnf150	T	A	8: 82,990,579	N238K	possibly damaging	Het
Rrp1	A	G	10: 78,404,923		probably null	Het
Scaf8	T	A	17: 3,195,795	L720M	possibly damaging	Het
Slamf1	G	T	1: 171,798,203	V316L	probably damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc25a20	T	C	9: 108,672,476	F86L	probably benign	Het
Slc4a5	T	G	6: 83,240,732	S131A	probably benign	Het
Slitrk3	A	G	3: 73,051,316	I41T	probably benign	Het
Sntg1	A	T	1: 8,677,974	L94Q	probably damaging	Het
St18	T	C	1: 6,845,587	C819R	probably damaging	Het
St6galnac3	T	A	3: 153,411,540	D182V	probably benign	Het
Tubgcp2	T	A	7: 140,004,876	T549S	probably benign	Het
Vim	A	T	2: 13,574,337		probably benign	Het
Vmn2r118	C	A	17: 55,592,837	R689I	probably damaging	Het
Zbtb41	A	T	1: 139,447,517	E905V	probably damaging	Het
Zfyve9	A	T	4: 108,642,091	D1284E	possibly damaging	Het

Other mutations in Mtus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mtus1	APN	8	41084349	missense	probably damaging	1.00
IGL01377:Mtus1	APN	8	41083135	missense	possibly damaging	0.94
IGL01472:Mtus1	APN	8	41002412	missense	probably benign	0.01
IGL01995:Mtus1	APN	8	41084420	missense	probably damaging	1.00
IGL02027:Mtus1	APN	8	40993601	missense	probably damaging	1.00
IGL02381:Mtus1	APN	8	41083119	missense	probably benign	0.05
IGL02571:Mtus1	APN	8	41083482	missense	possibly damaging	0.90
IGL02936:Mtus1	APN	8	40999517	missense	possibly damaging	0.79
R0116:Mtus1	UTSW	8	40998477	unclassified	probably benign
R0139:Mtus1	UTSW	8	41016196	splice site	probably benign
R0178:Mtus1	UTSW	8	41002361	missense	possibly damaging	0.94
R0179:Mtus1	UTSW	8	41002361	missense	possibly damaging	0.94
R0220:Mtus1	UTSW	8	40994572	missense	probably damaging	1.00
R0324:Mtus1	UTSW	8	41084395	missense	probably benign
R0355:Mtus1	UTSW	8	41082928	missense	probably benign	0.02
R0357:Mtus1	UTSW	8	41083526	missense	possibly damaging	0.71
R0464:Mtus1	UTSW	8	41002474	missense	probably damaging	0.96
R0681:Mtus1	UTSW	8	40993517	missense	probably damaging	1.00
R1016:Mtus1	UTSW	8	41050026	missense	probably benign	0.43
R1570:Mtus1	UTSW	8	41076241	missense	probably damaging	1.00
R1579:Mtus1	UTSW	8	41082858	missense	probably damaging	1.00
R1607:Mtus1	UTSW	8	41015409	missense	possibly damaging	0.58
R1869:Mtus1	UTSW	8	41076230	critical splice donor site	probably null
R1888:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R1888:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R1891:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R1894:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R2063:Mtus1	UTSW	8	41082708	missense	probably damaging	1.00
R2111:Mtus1	UTSW	8	41022571	missense	probably damaging	1.00
R2112:Mtus1	UTSW	8	41022571	missense	probably damaging	1.00
R2224:Mtus1	UTSW	8	41082775	missense	probably damaging	1.00
R2226:Mtus1	UTSW	8	41082775	missense	probably damaging	1.00
R2227:Mtus1	UTSW	8	41082775	missense	probably damaging	1.00
R2516:Mtus1	UTSW	8	41082739	missense	probably damaging	1.00
R3414:Mtus1	UTSW	8	41048063	missense	probably damaging	1.00
R3899:Mtus1	UTSW	8	41083129	missense	probably benign
R4096:Mtus1	UTSW	8	41084247	missense	probably damaging	0.99
R4831:Mtus1	UTSW	8	41083152	missense	probably damaging	1.00
R4850:Mtus1	UTSW	8	41084470	missense	possibly damaging	0.81
R4916:Mtus1	UTSW	8	41000801	missense	probably damaging	1.00
R4940:Mtus1	UTSW	8	41041478	missense	possibly damaging	0.52
R4988:Mtus1	UTSW	8	41084541	missense	probably benign	0.05
R5133:Mtus1	UTSW	8	41083192	missense	probably benign	0.00
R5468:Mtus1	UTSW	8	41084578	missense	probably benign	0.00
R5598:Mtus1	UTSW	8	41022555	missense	probably damaging	1.00
R5782:Mtus1	UTSW	8	41082727	missense	probably damaging	1.00
R5860:Mtus1	UTSW	8	41076266	missense	probably damaging	0.99
R5900:Mtus1	UTSW	8	41083497	missense	possibly damaging	0.92
R5943:Mtus1	UTSW	8	41084265	missense	probably benign	0.00
R6019:Mtus1	UTSW	8	41083040	missense	probably benign	0.33
R6125:Mtus1	UTSW	8	41084539	missense	probably damaging	0.99
R6197:Mtus1	UTSW	8	41084037	missense	possibly damaging	0.90
R6488:Mtus1	UTSW	8	41041508	missense	possibly damaging	0.52
R6869:Mtus1	UTSW	8	41082654	missense	possibly damaging	0.71
R7117:Mtus1	UTSW	8	41083584	missense	possibly damaging	0.95
R7126:Mtus1	UTSW	8	41015402	missense	probably damaging	0.98
R7213:Mtus1	UTSW	8	41084487	missense	probably damaging	0.99
R7308:Mtus1	UTSW	8	41082928	missense	probably benign	0.02
R7424:Mtus1	UTSW	8	41022406	missense	probably damaging	1.00
R7481:Mtus1	UTSW	8	41084615	missense	probably damaging	0.99
R7485:Mtus1	UTSW	8	41084553	missense	probably benign	0.37
R7660:Mtus1	UTSW	8	41016211	missense	probably benign
R7699:Mtus1	UTSW	8	41083969	missense	possibly damaging	0.94
R7700:Mtus1	UTSW	8	41083969	missense	possibly damaging	0.94
R7709:Mtus1	UTSW	8	41054650	missense	possibly damaging	0.81
R7791:Mtus1	UTSW	8	41083380	missense	possibly damaging	0.88
R8196:Mtus1	UTSW	8	41056652	missense	probably benign
R8463:Mtus1	UTSW	8	41083234	missense	probably benign	0.01
R8724:Mtus1	UTSW	8	40998463	missense	probably damaging	0.99
R9047:Mtus1	UTSW	8	41083723	missense	possibly damaging	0.94
R9092:Mtus1	UTSW	8	41002438	missense	probably damaging	1.00
R9283:Mtus1	UTSW	8	41083482	missense	probably benign	0.02
R9313:Mtus1	UTSW	8	41082886	missense	probably damaging	0.99
R9329:Mtus1	UTSW	8	41084202	missense	probably damaging	1.00
R9711:Mtus1	UTSW	8	41083185	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTCATTGTCGTGGGAATCG -3'
(R):5'- GATGCAAACTGACAGTCCAGAC -3'

Sequencing Primer
(F):5'- ATCGATGTGTGGGTCTTCAGTCAC -3'
(R):5'- ACGTTGGAGTTCAGGGTCAGAATTC -3'

Posted On

2022-09-12